CD44

Chr 11

CD44 molecule (IN blood group)

Also known as: CDW44, CSPG8, ECM-III, ECMR-III, H-CAM, HCELL, HUTCH-1, HUTCH-I

NCBI Gene: 960ENSG00000026508UniProt: P16070

CD44 encodes a cell-surface glycoprotein that serves as a receptor for hyaluronic acid and functions in cell-cell interactions, cell adhesion, and migration by assembling signaling complexes that coordinate cytoskeletal reorganization. Mutations in CD44 are associated with blood group Indian system variants, which typically represent benign polymorphisms rather than disease-causing mutations. The gene shows low constraint to loss-of-function variants (pLI near zero), suggesting haploinsufficiency is unlikely to cause severe developmental phenotypes.

Summary from RefSeq, OMIM, UniProt
Research Assistant →

Primary Disease Associations & Inheritance

[Blood group, Indian system]MIM #609027
9
Active trials
1552
Pubs (1 yr)
17
P/LP submissions
0%
P/LP missense
0.66
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— CD44
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
17 unique Pathogenic / Likely Pathogenic· 94 VUS of 173 total submissions
💊
Clinical Trials
9 active or recruiting trials — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →
📖
GeneReview available — CD44
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.66LOEUF
pLI 0.000
Z-score 3.25
OE 0.45 (0.31–0.66)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.84Z-score
OE missense 0.88 (0.81–0.96)
358 obs / 405.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.45 (0.31–0.66)
0≤0.351.4
Missense OE0.88 (0.81–0.96)
0≤0.61.4
Synonymous OE1.00
0≤1.21.6
LoF obs/exp: 18 / 40.2Missense obs/exp: 358 / 405.7Syn Z: -0.03
DN
0.7325th %ile
GOF
0.6737th %ile
LOF
0.2775th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

173 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic17
VUS94
Likely Benign20
Benign13
17
Pathogenic
94
VUS
20
Likely Benign
13
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
17
0
17
Likely Pathogenic
0
0
0
0
0
VUS
0
83
11
0
94
Likely Benign
0
8
4
8
20
Benign
0
6
1
6
13
Total0973314144

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CD44 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
AsthmaAtherosclerosisMetabolic Syndrome

Study of the Effect of Innate on the Inflammatory Response to Endotoxin

RECRUITING
NCT01143480National Institute of Environmental Health Sciences (NIEHS)Started 2012-07-30
Acute Myeloid Leukemia

Role of Adrenomedullin in Leukemic Endosteal/Vascular Niches

ACTIVE NOT RECRUITING
NCT04460963Phase NAGruppo Italiano Malattie EMatologiche dell'AdultoStarted 2021-06-09
Adrenomedullin
Glioma

Clinical Study for the Safety and Therapeutic Efficacy of the AI-QMMM Designed TamavaqTM Personalised Vaccine in Patients With Newly Diagnosed Glioma.

RECRUITING
NCT07077616Phase EARLY_PHASE1Biogenea Pharmaceuticals Ltd.Started 2025-07-01
Biological: personalized vaccine Based on genetic and transcriptional sequencing information, personalized peptide vaccines would be designed and produced;
Recurrent Glioblastoma IDH Wildtype

A Clinical Trial of P134 Cells in Recurrent Glioblastoma

RECRUITING
NCT07318818Phase PHASE1, PHASE2Tasly Pharmaceutical Group Co., LtdStarted 2026-01-05
P134 cell injection
Pancreas Cancer

Prospective Cohort Study of Pancreatic Cancer Patients Treated With Proton Beam Therapy

ENROLLING BY INVITATION
NCT04466189National Cancer Center, KoreaStarted 2018-09-21
Type1diabetes

Crosstalk Between Mucosal-Associated Invariant T (MAIT) Cells and the Gut Microbiota and Mucosa in the Development of Type 1 Diabetes in Children

RECRUITING
NCT05054361Institut National de la Santé Et de la Recherche Médicale, FranceStarted 2022-01-01
MAIT cells analysisMAIT cytokines production analysisLactulose/Mannitol Test
Non-Muscle Invasive Bladder Urothelial CarcinomaRecurrent Non-Muscle Invasive Bladder Urothelial Carcinoma

Study to Determine Possible Effects of Apalutamide, Compared to Placebo, on EGFR Expression in Patients With Non-muscle Invasive Bladder Cancer

NOT YET RECRUITING
NCT05521698Phase PHASE1University of Wisconsin, MadisonStarted 2026-04
ApalutamideBiopsy ProcedureBiospecimen Collection
EndometriosisImmunityMicrobiota

Innate Immunity, MIcrobiota and Inovative Treatments in Endometriosis

NOT YET RECRUITING
NCT07078435Phase NAUniversity Hospital, GrenobleStarted 2025-09-09
surgery (any volume) and / or pharmaceuticals treatment initiated or planned or only dynamic observation, in accordance with current clinical guidelinesBlood testStool samples
Liver Cancer

Prospective Cohort Study of Liver Cancer Patients Treated With Proton Beam Therapy

ENROLLING BY INVITATION
NCT04466124National Cancer Center, KoreaStarted 2018-09-21
Liver Cancer Patients Treated With Proton Beam Therapy
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Clickable polyamidosaccharides: accessing bottlebrush inspired hyaluronic acid glycopolymers for CD44 targeting of breast cancer cells.
Sockett KA et al.·Biomater Sci
2026Open Access
Ultrasensitive detection of oral cancer biomarkers CD63 and CD44 in exosomes using janus particles: a rotational diffusometry-based assay.
Laily FN et al.·Saudi Dent J
2026Open Access
Dual ligand grafted liposomes for CD44 and CD206 targeted delivery of niclosamide against bisphenol A-induced hepatic fibrosis in albino Wistar rats: In vivo therapeutic efficacy and molecular pathway modulation.
Kumar V et al.·Naunyn Schmiedebergs Arch Pharmacol
2026
Hyaluronic acid-CD44 signaling defines therapeutic resistance and immunosuppressive microenvironment in peritoneal metastasis of gastric cancer.
Zhao J et al.·J Immunother Cancer
2026Open Access
HYAL2-generated low-molecular-weight hyaluronic acid promotes intervertebral disc degeneration via the CD44/AKT signaling axis.
He S et al.·Biochem Biophys Res Commun
2026
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients